Abstract

Background: CLOVES syndrome (CS) is a rare genetic disorder caused by a mutation in PIK3CA gene. Characteristics of CS include fatty overgrowth and lymphatic malformations in the body.
Case Presentation: The study reported a case of CS in a 6-year-old boy having tissue hypertrophy in the right lower limb, a capillary venous malformation in the buttock and right lower limb, enlargement of feet with bilateral macrodactyly, resulting in walking difficulty. The patient was diagnosed to have these symptoms by birth. Over a period of 2 years, the patient was subjected to Sirolimus treatment, the effectiveness of the treatment had been consolidated in this case report. In 2012, the patient underwent venogram, diode laser, and sclerotherapy for the bleeding. In 2016, the patient was started on Sirolimus drug in controlled doses and the patient’s condition was stabilized. The imaging techniques showed signs of improvement of the infiltrative venolymphatic malformation. The therapy was continued until 2019 and the tissue growth was controlled.
Conclusion: Sirolimus could be an ideal therapeutic agent for CS when administered in controlled doses

Key words: CLOVES syndrome, Sirolimus, tissue hypertrophy, capillary venous malformation, PIK3CA